Variant report

Variant	esv2198473
Chromosome Location	chr7:19096521-19096963
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543013862	chr7:19096528-19096529	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561384608	chr7:19096585-19096586	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531900981	chr7:19096621-19096622	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550498248	chr7:19096622-19096623	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543585262	chr7:19096638-19096639	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546112656	chr7:19096658-19096659	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150660792	chr7:19096701-19096702	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201417501	chr7:19096705-19096706	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs199628358	chr7:19096742-19096743	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532407469	chr7:19096744-19096745	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201540287	chr7:19096745-19096746	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs199703696	chr7:19096746-19096747	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200842128	chr7:19096747-19096748	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200290796	chr7:19096750-19096751	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201237436	chr7:19096751-19096752	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567393647	chr7:19096855-19096856	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115952187	chr7:19096863-19096864	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145261666	chr7:19096903-19096904	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2905459	chr7:19096929-19096930	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs550431062	chr7:19096952-19096953	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
Autism	20808228	CNVD
Sezary syndrome	18413736	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19082800-19100400	Weak transcription	HSMM	muscle
2	chr7:19086200-19101800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:19086600-19100000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:19091800-19100400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr7:19093400-19097600	Strong transcription	NHDF-Ad	bronchial
6	chr7:19094800-19100200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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